trichothiodystrophy syndrome

• 裂毛症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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• 1. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
• 2. アシュケナージ系ユダヤ人集団における遺伝的疾患の保因者スクリーニング carrier screening for genetic disease in the ashkenazi jewish population
• 3. 小児における核上性注視異常 supranuclear disorders of gaze in children
• 4. 光線過敏症（光線皮膚症）：臨床症状、診断、および治療 photosensitivity disorders photodermatoses clinical manifestations diagnosis and treatment
• 5. 筋萎縮性側索硬化症およびその他の運動ニューロン疾患の診断 diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease

English Journal

• Ocular Manifestations of Xeroderma Pigmentosum: Long-Term Follow-up Highlights the Role of DNA Repair in Protection from Sun Damage.

• Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki SI, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH.SourceNational Eye Institute, National Institutes of Health, Bethesda, Maryland. Electronic address: brooksb@mail.nih.gov.
• Ophthalmology.Ophthalmology.2013 Apr 16. pii: S0161-6420(12)01266-3. doi: 10.1016/j.ophtha.2012.12.044. [Epub ahead of print]
• OBJECTIVE: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet radiation resulting in inflammation and neoplasia in sun-exposed areas of the skin, mucous membranes,
• PMID 23601806

• ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activities.

• Abdulrahman W, Iltis I, Radu L, Braun C, Maglott-Roth A, Giraudon C, Egly JM, Poterszman A.SourceCentre National de la Recherche Scientifique/Institut National de la Santé et de la Recherche Médicale/Université de Strasbourg, Illkirch Cedex 67404, France.
• Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2013 Feb 19;110(8):E633-42. doi: 10.1073/pnas.1213981110. Epub 2013 Feb 4.
• The xeroderma pigmentosum group D (XPD) helicase is a subunit of transcription/DNA repair factor, transcription factor II H (TFIIH) that catalyzes the unwinding of a damaged DNA duplex during nucleotide excision repair. Apart from two canonical helicase domains, XPD is composed of a 4Fe-S cluster do
• PMID 23382212

• DNA helicases associated with genetic instability, cancer, and aging.

• Suhasini AN, Brosh RM Jr.SourceLaboratory of Molecular Gerontology, National Institute on Aging, National Institutes of Health, NIH Biomedical Research Center, Baltimore, MD, USA.
• Advances in experimental medicine and biology.Adv Exp Med Biol.2013;767:123-44. doi: 10.1007/978-1-4614-5037-5_6.
• DNA helicases have essential roles in the maintenance of genomic -stability. They have achieved even greater prominence with the discovery that mutations in human helicase genes are responsible for a variety of genetic disorders and are associated with tumorigenesis. A number of missense mutations i
• PMID 23161009

Japanese Journal

• A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

• Nat Genet 36, 714-719, 2004
• NAID 30013796558

• DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

• Biochimie 85, 1101-1111, 2003
• NAID 30008771338

• Immune function, mutant frequency, and cancer risk in the DNA repair defective genodermatoses xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy

• J. Invest. Dermatol. 94, 94-100, 1990
• NAID 30014535862

Related Links

• LSDシソーラス: 裂毛症候群 Trichothiodystrophy Syndrome

英語をクリック → Trichothiodystrophy Syndrome との組み合わせでEntrez を検索 色素性乾皮症D群タンパク質 (Xeroderma Pigmentosum Group D Protein); 色素性乾皮症 (Xeroderma Pigmentosum); コケイン症候群 (); DNA修復 (); (); ...

• Trichothiodystrophy syndrome | Overview - PFOND | Home

Trichothiodystrophy Overview: Trichothiodystrophy, also known as TTD, is a rare inherited genetic disorder characterized by hair that is deficient in sulfur, an element that is normally responsible for providing strength to hair [1][2]. As ...

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★リンクテーブル★

リンク元	「裂毛症候群」
関連記事	「trichothiodystrophy」「syndrome」

「裂毛症候群」

　　[★]

英

trichothiodystrophy syndrome

「trichothiodystrophy」

　　[★] 裂毛症、硫黄欠乏性毛髪発育異常症。trichorrhexis、TTD

「syndrome」

　　[★]

• n.

• 症候群